Works matching IS 16618769 AND DT 2016 AND VI 7 AND IP 3
Results: 8
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 160, doi. 10.1159/000446619
- By:
- Publication type:
- Article
Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 153, doi. 10.1159/000446203
- By:
- Publication type:
- Article
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 144, doi. 10.1159/000446884
- By:
- Publication type:
- Article
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 138, doi. 10.1159/000447077
- By:
- Publication type:
- Article
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 122, doi. 10.1159/000446586
- By:
- Publication type:
- Article
Silver-Russell Syndrome and Beckwith- Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 110, doi. 10.1159/000447413
- By:
- Publication type:
- Article
Arthrogryposis as a Syndrome: Gene Ontology Analysis.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 101, doi. 10.1159/000446617
- By:
- Publication type:
- Article
Disconnecting CNTNAP2.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 3, p. 99, doi. 10.1159/000447002
- By:
- Publication type:
- Article